Huang H, Wang X, Guo AN, Li W, Duan RH, Fang JH, Yin B, Li DD. De novo brain arteriovenous malformation formation and development: A case report. World J Clin Cases 2022; 10(18): 6277-6282 [PMID: 35949829 DOI: 10.12998/wjcc.v10.i18.6277]
Corresponding Author of This Article
Dan-Dong Li, MD, Neurosurgeon, Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, No. 108 Xueyuan West Road, Wenzhou 325000, Zhejiang Province, China. andonglmn@163.com
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jun 26, 2022; 10(18): 6277-6282 Published online Jun 26, 2022. doi: 10.12998/wjcc.v10.i18.6277
De novo brain arteriovenous malformation formation and development: A case report
Huan Huang, Xue Wang, An-Na Guo, Wei Li, Ren-Hua Duan, Jun-Hao Fang, Bo Yin, Dan-Dong Li
Huan Huang, Xue Wang, An-Na Guo, Department of Radiology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China
Wei Li, Ren-Hua Duan, Jun-Hao Fang, Bo Yin, Dan-Dong Li, Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China
Author contributions: Li DD was in charge of case review and preparation of the manuscript; Huang H, Wang X, Guo AN, and Li W collected clinical opinions regarding this case and drafted the manuscript; Duan RH, Fang JH, and Yin B participated in the coordinating the manuscript; Huang H and Li DD revised the manuscript; All authors read and approved the final manuscript.
Supported bythe Science and Technology Program of Wenzhou, China, No. Y20190145 to Huan Huang; and the Beijing New Health Industry Development Foundation, No. XM2020-02-002 to Bo Yin.
Informed consent statement: Written informed consent was obtained from the patient’s parents.
Conflict-of-interest statement: The authors declare there are no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Dan-Dong Li, MD, Neurosurgeon, Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, No. 108 Xueyuan West Road, Wenzhou 325000, Zhejiang Province, China. andonglmn@163.com
Received: January 13, 2022 Peer-review started: January 13, 2022 First decision: March 23, 2022 Revised: April 1, 2022 Accepted: April 27, 2022 Article in press: April 27, 2022 Published online: June 26, 2022 Processing time: 154 Days and 12.1 Hours
Abstract
BACKGROUND
Brain arteriovenous malformation (AVM), an aberrant vascular development during the intrauterine period, is traditionally considered a congenital disease. Sporadic reports of cases of de novo AVM formation in children and adults have challenged the traditional view of its congenital origin.
CASE SUMMARY
In this report, we have presented the case of a child with a de novo brain AVM. Magnetic resonance imaging and magnetic resonance angiography of the brain showed no AVM at the age of 5 years and 2 mo. Brain AVM was first detected in this child at the age of 7 years and 4 mo. The brain AVM was significantly advanced, and hemorrhage was seen for the first time at the age of 12 years and 8 mo. There was further progression in the AVM, and hemorrhage occurred again at the age of 13 years and 5 mo. Genetic analysis of this patient revealed a mutation in the NOTCH2 (p.Asp473Val) gene.
CONCLUSION
In short, our case has once again confirmed the view that brain AVM is an acquired disease and is the result of the interaction of genes, environment, and molecules.
Core Tip: Brain arteriovenous malformation (AVM) is one of the main causes of spontaneous cerebral hemorrhage in children. At present, the mechanism of the occurrence and development of AVM is not clear, and there have been very few case reports that have documented the progression of a de novo brain AVM. In this report, we present the case of a child with a de novo brain AVM. Brain AVM was first detected in this child at the age of 7 years and 4 mo and was significantly advanced and hemorrhaging at the age of 12 years and 8 mo. Genetic analysis of this patient revealed a mutation in the NOTCH2 (p.Asp473Val) gene.
